Homo sapiens Gene: VHL
Summary
InnateDB Gene IDBG-17819.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol VHL
Gene Name von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
Synonyms HRCA1; pVHL; RCA1; VHL1;
Species Homo sapiens
Ensembl Gene ENSG00000134086
Encoded Proteins
von Hippel-Lindau tumor suppressor
von Hippel-Lindau tumor suppressor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:10141008-10152220
Strand Forward strand
Band p25.3
Transcripts
ENST00000256474 ENSP00000256474
ENST00000345392 ENSP00000344757
ENST00000477538
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 360 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Experimentally validated
Total 360 [view]
Protein-Protein 358 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 10 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019899 enzyme binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000902 cell morphogenesis
GO:0006355 regulation of transcription, DNA-templated
GO:0006508 proteolysis
GO:0006950 response to stress
GO:0008285 negative regulation of cell proliferation
GO:0016567 protein ubiquitination
GO:0043066 negative regulation of apoptotic process
GO:0045597 positive regulation of cell differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0050821 protein stabilization
GO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia
GO:0061428 negative regulation of transcription from RNA polymerase II promoter in response to hypoxia
GO:0071456 cellular response to hypoxia
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0016020 membrane
GO:0045111 intermediate filament cytoskeleton
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Cellular responses to stress pathway
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha pathway
Adaptive Immune System pathway
Regulation of Hypoxia-inducible Factor (HIF) by oxygen pathway
Immune System pathway
Antigen processing: Ubiquitination & Proteasome degradation pathway
Cellular response to hypoxia pathway
Class I MHC mediated antigen processing & presentation pathway
KEGG
Ubiquitin mediated proteolysis pathway
Pathways in cancer pathway
Renal cell carcinoma pathway
INOH
PID BIOCARTA
Hypoxia-inducible factor in the cardivascular system [Biocarta view]
Vegf hypoxia and angiogenesis [Biocarta view]
PID NCI
HIF-2-alpha transcription factor network
Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.543265
RefSeq NM_000551 NM_198156
HUGO
OMIM
CCDS CCDS2597 CCDS2598
HPRD 01905
IMGT
EMBL
GenPept
RNA Seq Atlas